Linked Data
dbSNP Id:
rs2102734865
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431420_229431421insC , CM000663.2:g.229431420_229431421insC | GRCh38 |
| NC_000001.10:g.229567167_229567168insC , CM000663.1:g.229567167_229567168insC | GRCh37 |
| NC_000001.9:g.227633790_227633791insC | NCBI36 |
| NG_006672.1:g.7676_7677insG , LRG_429:g.7676_7677insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.*78_*79insG | ENSP00000355644.4:n.*78_*79insG | |
| ENST00000684723.1:c.*78_*79insG | ENSP00000508084.1:n.*78_*79insG | |
| ENST00000366683.3:c.*78_*79insG | ENSP00000355644.3:n.*78_*79insG | |
| ENST00000366684.7:c.*78_*79insG MANE Select | ENSP00000355645.3:n.*78_*79insG | |
| NM_001100.3:c.*78_*79insG , LRG_429t1:c.*78_*79insG | NP_001091.1:n.*78_*79insG | |
| NM_001100.4:c.*78_*79insG MANE Select | NP_001091.1:n.*78_*79insG |